ClinVar

NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val)

Gene:

SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 144414389 (on Assembly GRCh38)
• Chr8: 145639773 (on Assembly GRCh37)

Preferred name:

NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val)

HGVS:

• NC_000008.11:g.144414389G>A
• NG_012234.2:g.7502C>T
• NM_001374839.1:c.740C>T
• NM_017767.3:c.947C>T
• NM_130849.4:c.1022C>TMANE SELECT
• NP_001361768.1:p.Ala247Val
• NP_060237.3:p.Ala316Val
• NP_570901.3:p.Ala341Val
• NC_000008.10:g.145639773G>A
• NM_130849.3:c.1022C>T

This HGVS expression did not pass validation

Protein change:

A247V

Links:

dbSNP: rs200126079

NCBI 1000 Genomes Browser:

rs200126079

Molecular consequence:

• NM_001374839.1:c.740C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017767.3:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_130849.4:c.1022C>T - missense variant - [Sequence Ontology: SO:0001583]